Five haplotypes were tested in HepG2 cells by transient transfections. The activity of each was normalized to that of haplotype 1, which had the sequence closest to the reference sequence in GenBank (accession number NT_016354.17). A significant decrease in the promoter activity relative to haplotype 1 was observed in haplotypes 3, 4 and 5 (p-value ≤5 × 10−7), whereas no difference in activity was seen with haplotype 2 (p-value = 0.39; Figure 2). Haplotypes 1 and 2 share an A at rs1229982 (Table 2), suggesting that rs1229982 might be responsible for the decrease in promoter activity.
